What does elliptocytosis mean?
Elliptocytosis is a hereditary disorder of the red blood cells (RBCs). In this condition, the RBCs assume an elliptical shape, rather than the typical round shape. Blood is comprised of red blood cells, platelets, and various white blood cells. Elliptocytosis is a hereditary disorder of the red blood cells (RBCs).
What causes elliptocytosis?
Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene, and is inherited in an autosomal dominant pattern. [15370] Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern.
Does elliptocytosis cause anemia?
Hereditary spherocytosis and hereditary elliptocytosis are congenital red blood cell (RBC) membrane disorders that can cause a mild hemolytic anemia. Symptoms, generally milder in hereditary elliptocytosis, include variable degrees of anemia, jaundice, and splenomegaly.
How is elliptocytosis diagnosed?
Initial laboratory studies for the diagnosis of hereditary elliptocytosis (HE) include the following :
- Complete blood cell count (CBC)
- Peripheral blood smear.
- Direct antiglobulin test (Coombs test)
- Bilirubin.
- Haptoglobin.
- Reticulocyte count/immature reticulocyte fraction.
- Potassium.
- Lactate dehydrogenase (LDH)
What is the difference between ovalocytes and elliptocytes?
Elliptocytes: Red blood cells are cigar or pencil shaped with parallel sides and an area of pallor. Ovalocytes: Are red blood cells that are oval or egg shaped.
Why are elliptocytes called ovalocytes?
Elliptocytes, also known as ovalocytes, are abnormally shaped red blood cells that appear oval or elongated, from slightly egg-shaped to rod or pencil forms.
Why do elliptocytes form?
Cell Formation: Formation occurs due to erythrocyte membrane protein defects resulting in an increase in mechanical weakness and membrane fragility. Hereditary elliptocytosis occurs due to defects in the horizontal protein linkages between the membrane and cytoskeleton.
Which cells are also known as elliptocytes?
Elliptocytes (ovalocytes) range from slightly oval to elongated cigar-shaped forms. Teardrop erythrocytes (dacryocytes) are red cells with one end round and the other end more pointed.
Is hereditary elliptocytosis a rare disease?
Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.
Are elliptocytes normal?
Causes. Rare elliptocytes (less than 1%) on a peripheral blood smear are a normal finding. These abnormal red blood cells are seen in higher numbers in the blood films of patients with blood disorders such as: Hereditary elliptocytosis and Southeast Asian ovalocytosis.
What is the principal defect associated with hereditary elliptocytosis?
In hereditary elliptocytosis, genetic mutations result in weakness of the cytoskeleton of the cell, leading to deformation of the cell. The abnormally shaped RBCs are taken up and destroyed by the spleen.